Ethical, legal and social issues

The goal of a gene/disease specific database is to widely share genomic information ultimately for research and clinical care to benefit all people. With the sharing of specific gene variations on the internet it is essential to provide protection and privacy of the patients from which the information is generated.

There are significant ethical, legal and social considerations and responsibilities that must be managed.

Outlined below are some Ethical considerations that should be addressed [1,2].

Clarify the purpose of the database

Refer to the Information to be included in a gene/disease specific database section for more information on database purpose.
  • Who is expected to use the database and for what purpose?
  • What detail of clinical data is required?

The data required to fulfil the purpose of a databases will vary from other databases, thus ethical issues will differ slightly. The answers to the above questions will guide decisions on access to the database and the ethical requirements to be adhered to by any submitter [2].

Create an ethics oversight committee

A database that is making genomic information accessible that has not previously been publicly accessible, or is changing the information detail of the data, should have an ethical oversight committee of independent and well-informed members from relevant stakeholder groups, varying disciplines and patient groups to provide advice to the database curator [2].

The involvement of an ethical committee with a multidisciplinary membership ensures responsibility of ongoing monitoring, submission review and transparency [1].

The responsibilities of an ethics oversight committee include:

  • Review and make recommendations on ethical issues raised in relation to the database
  • Recommend limits required in provision of data and level of anonymization
  • Advise on database accessibility control

Define database policies and scientific approach

Information within a gene/disease specific database may be obtained from different sources of data:

  • Published literature
  • Other databases
  • Direct submission
    • Unpublished laboratory/clinical data
  • HVP Country Nodes [3]

Considerations with using data from these sources include [2]:

  • Source of data
  • Scientific accuracy
  • Patient consent behind the data
  • Informing data source of use (author)
  • Consent form for self-submitting patients

Consent for future uses of data is also a consideration. Ideally the consent for data to be made publicly available in databases should be included when consenting for research projects and diagnostic tests [2].

Take vulnerable persons into account

A person who does not have the capacity to consent due to either age or a disability are considered vulnerable, the obtaining of consent via appropriate relatives, representative or legal authorities should involve regular external reviews of those consent procedures [2].

Take specific communities and cultures into consideration

Identifiable groups may be widely affected by a specific disease and be a predominant source of data in a relevant LSDB. Consultation with the community should occur prior to obtaining individual consent, and every effort to provide privacy and respect cultural sensitivities should be taken [1,2].

Protect confidentiality, remove (anonymize) identifying information before submission

All data in a gene/disease specific database should be anonymized to avoid the potential for the sample to be identified, every effort should be made to ensure identifiable information is removed prior to submission [2].

  • To protect confidentiality decisions to whether data is ‘CODED’ (Re-identified) or ‘ANONYMIZED’ (de-identified)
    • The use of unique identifiers such as sequence accession numbers, which separate the entry from a name
  • The reporting of rare variants and diseases, combinations of unique clinical features and associated information regarding location could unintentionally serve to indentify a patient. In cases where detailed clinical data, photographs and/or detailed pedigrees are required, the ethical oversight committee should be involved to determine any restrictions to the information by either registration or access approval requirements [2].
  • In diseases where variants in more than one gene are involved, recording the variation record of both genes in the same individual and linking the entry between databases can be useful for clinical interpretation. Careful evaluation of the use of links should be considered as it could inadvertently allow identification of the patient [2].

Requests for further information in relation to a database entry should not be provided by the curator, unless consent for the release of this information is provided. The consent is required to be given with professional judgement by the submitter of the data, and no identifiable information should be released without specific consent by the patient [1].

Make provisions for data removal from the database

Provisions should be in place to remove data from the database if consent for disclosure was given by a parent or guardian for a child or an incompetent adult. Unless the information is completely anonymized, the option to be able to withdraw the information should be made apparent. If a child reaches the age of consent or the adult considered incompetent becomes competent, those who previously authorised the sharing of the data should make the individual aware of the option to withdraw their data from the database, it should be noted that it may not be possible to eradicate the data from other sources that have obtained the information prior to removal [2].

Be cautious in responses for opinions/advice

The recommendation is that gene/disease specific databases do not offer interactive clinical advice, clinic interpretation should be through a clinical committee of experts. Answering questions in relation to the database is generally acceptable if adherence to the governing framework of ethical principles for clinicians, and it is advised to obtain clinical interpretation from published rather than unpublished data [2].

Follow a common ethical framework

It is important for international gene/disease specific databases to follow a common approach and set of principles, this will allow improved compatibility of information sharing and collaboration in the efforts to diagnose and clinically treat disease [2].

References

  1. 1.Cotton, R.G.H., Sallée, C., and Knoppers, B.M. Locus-specific databases: from ethical principles to practice. Human Mutation 26, 5 (2005), 489–493.
  2. 2.Povey, S., Al Aqeel, A.I., Cambon-Thomsen, A., et al. Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs). Human Mutation 31, 11 (2010), 1179–1184.
  3. 3.Human Variome Project. Project Roadmap 2012-2016. 2012.